Canonical Allele Identifier: CA222894148

Gene: TMEM216

Linked Data

• dbSNP Id: rs1016724906
• gnomAD v4: 11-61392407-C-G
• MyVariant Identifiers: chr11:g.61159879C>G (hg19) ; chr11:g.61392407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392407C>G , CM000673.2:g.61392407C>G	GRCh38
NC_000011.9:g.61159879C>G , CM000673.1:g.61159879C>G	GRCh37
NC_000011.8:g.60916455C>G	NCBI36
NG_032976.1:g.5048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.9:c.-225C>G	ENSP00000334844.5:n.-225C>G
ENST00000398979.7:c.-422C>G	ENSP00000381950.3:n.-422C>G
ENST00000515837.6:c.-225C>G	ENSP00000440638.1:n.-225C>G
NM_001173990.2:c.-225C>G	NP_001167461.1:n.-225C>G
NM_001173991.2:c.-225C>G	NP_001167462.1:n.-225C>G
NM_016499.5:c.-422C>G	NP_057583.2:n.-422C>G
XM_005274039.3:c.-556C>G	XP_005274096.1:n.-556C>G
NM_001330285.1:c.-422C>G	NP_001317214.1:n.-422C>G
XM_005274039.4:c.-556C>G	XP_005274096.1:n.-556C>G